Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome

F1000Res. 2014 Jul 11;3:159. doi: 10.12688/f1000research.4205.1. eCollection 2014.

Abstract

Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing molecular evidence for this association. Our findings expand the tumour spectrum associated with this syndrome. It is paramount to identify individuals with Birt-Hogg-Dubé so that they, and subsequently their affected relatives, can benefit from tailored cancer screening and prevention.

Grant support

Financial support to the PREDIR Centre (PRB, SF) and the INSERM U753 Research Unit (SG) is provided continuously by the Ligue Nationale contre le Cancer (Comités de l’Indre et du Cher), the Myrovlytis Trust (BHD Foundation) and the Fondation Gustave Roussy.